ClinVar Miner

Submissions for variant NM_012293.3(PXDN):c.2821G>A (p.Val941Met)

dbSNP: rs189824177
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000552816 SCV000650801 benign Anterior segment dysgenesis 7 2024-10-22 criteria provided, single submitter clinical testing

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